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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

Term:primary ciliary dyskinesia 40
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Accession:DOID:0111853 term browser browse the term
Definition:A primary ciliary dyskinesia characterized by a subtle defect in the bend of the distal portion of the cilia, reduced ciliary clearance in-vitro, relatively mild respiratory phenotype and laterality defects in all reported patients that has_material_basis_in homozygous or compound heterozygous mutation in DNAH9 on chromosome 17p12. (DO)
Synonyms:exact_synonym: CILD40;   primary ciliary dyskinesia 40 with or without situs inversus
 primary_id: OMIM:618300
For additional species annotation, visit the Alliance of Genome Resources.



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primary ciliary dyskinesia 40 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dnah9 dynein, axonemal, heavy chain 9 ISO ClinVar Annotator: match by term: Ciliary dyskinesia, primary, 40 OMIM
ClinVar
PMID:24033266 PMID:25741868 PMID:28492532 PMID:30471717 PMID:30471718 NCBI chr10:50,496,174...50,864,909
Ensembl chr10:50,497,688...50,864,949
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18032
    sensory system disease 6469
      Otorhinolaryngologic Diseases 1557
        Ciliary Motility Disorders 199
          primary ciliary dyskinesia 186
            primary ciliary dyskinesia 40 1
Path 2
Term Annotations click to browse term
  disease 18032
    Developmental Disease 12742
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11402
        Congenital Abnormalities 6483
          Multiple Abnormalities 2970
            ciliopathy 659
              Ciliary Motility Disorders 199
                primary ciliary dyskinesia 186
                  primary ciliary dyskinesia 40 1
paths to the root